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Male Pseudohermaphroditism Due to 17Α-Hydroxylase Deficiency

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Male Pseudohermaphroditism Due to 17Α-Hydroxylase Deficiency Male pseudohermaphroditism due to 17α-hydroxylase deficiency Maria I. New J Clin Invest. 1970;49(10):1930-1941. https://doi.org/10.1172/JCI106412. Research Article This is the first report of a male with 17α-hydroxylase deficiency resulting in male pseudohermaphroditism, ambiguous external genitalia, absence of male secondary sexual characteristics, and gynecomastia at puberty. Diagnosis was based on extensive studies of steroid metabolism including the following: low urinary excretion of 17-ketosteroids and 17- hydroxycorticoids which did not increase after ACTH; no response of very low plasma testosterone and dehydroepiandrosterone to adrenocorticotropin (ACTH) or chorionic gonadotropin; and low urinary aldosterone and plasma renin which increased after dexamethasone. Secretion rates of 17-hydroxylated steroids, cortisol (F) and 11- desoxycortisol (S), were very low while desoxycorticosterone (DOC) and corticosterone (B) secretion rates were increased sevenfold. Results expressed as milligrams per meter squared per day were as follows: F, 1.3; S, 0.023; DOC, 0.35; and B, 16 (mean normal values were F, 7.5; S, 0.26; DOC, 0.055, and B, 2.2). Plasma gonadotropins were markedly increased (FSH, 106; LH, 364 mIU/ml). Testicular biopsies revealed interstitial-cell hyperplasia and early spermatogenesis. Karyotype was 46/XY. Pedigree showed no other affected member. At laparotomy ovaries, uterus, and fallopian tubes were absent, vas deferens was incomplete, and prostate was present. External genitalia consisted of small phallus, bifid scrotum, third-degree hypospadias, and small vagina. At puberty there was no growth of body hair or phallic enlargement. Biopsy of marked gynecomastia showed both ducts and acini. Testosterone administration produced virilization. Sexual […] Find the latest version: https://jci.me/106412/pdf Male Pseudohermaphroditism Due to 17a - Hydroxylase Deficiency MARIA I. NEW with the technical assistance of LADDAWAN SUVANNAKUL From the Department of Pediatrics, The New York Hospital-Cornell Medical Center, New York, New York 10021 A B STRA CT This is the first report of a male with differentiation is not testosterone dependent. Pubertal 17a-hydroxylase deficiency resulting in male pseudo- breast development in this male supports the concept of hermaphroditism, ambiguous external genitalia, absence femaleness during ontogeny unless counteracted by of male secondary sexual characteristics, and gyneco- male factors. Diagnosis of other adrenocortical enzymatic mastia at puberty. Diagnosis was based on extensive deficiencies is excluded by the steroidal studies. The studies of steroid metabolism including the following: clinical response to testosterone excludes testicular femini- low urinary excretion of 17-ketosteroids and 17-hydroxy- zation. Deficiency of 17-hydroxylation must be added to corticoids which did not increase after ACTH; no re- the cause of male pseudohermaphroditism. sponse of very low plasma testosterone and dehydroepi- androsterone to adrenocorticotropin (ACTH) or cho- INTRODUCTION and rionic gonadotropin; and low urinary aldosterone Since the report by Biglieri, Herron, and Brust of 17a- plasma renin which increased after dexamethasone. Se- hydroxylase deficiency in a female (1), there have been cretion rates of 17-hydroxylated steroids, cortisol (F) three subsequent females described with the syndrome de- and 11-desoxycortisol (S), were very low while of hypertension, primary amenorrhea, and sexual in- soxycorticosterone (DOC) and corticosterone (B) se- fantilism due to defective 17-hydroxylation (2, 3) of cretion rates were increased sevenfold. Results expressed steroids. as milligrams per meter squared per day were as This is the first report of a male with 17a-hydroxylase follows: F, 1.3; S, 0.023; DOC, 0.35; and B, 16 (mean deficiency which resulted in male pseudohermaphroditism, were and normal values F, 7.5; S, 0.26; DOC, 0.055, ambiguous external genitalia, absence of male secondary were increased B, 2.2). Plasma gonadotropins markedly sexual characteristics, and prominent breast development Testicular re- (FSH, 106; LH, 364 mIU/ml). biopsies at puberty. the previously reported females, this and Unlike vealed interstitial-cell hyperplasia early spermato- male did not manifest severe hypertension or hypoka- genesis. Karyotype was 46/XY. Pedigree showed no At lemia. Deficiency of an enzyme necessary for synthesis other affected member. laparotomy ovaries, uterus, of testosterone and estrogen in the female resulted in a and fallopian tubes were absent, vas deferens was in- External normal phenotype while in the male the phenotype was complete, and prostate was present. genitalia markedly altered. The role of estrogens and androgens of bifid consisted small phallus, scrotum, third-degree in embryological differentiation of the human male ex- and small At there was no hypospadias, vagina. puberty ternal and internal genitalia and in the production of growth of body hair or phallic enlargement. Biopsy of marked gynecomastia showed both ducts and acini. Tes- secondary sexual characteristics is elucidated by this tosterone administration produced virilization. Sexual case. ambiguity demonstrates strong dependence of external METHODS genitalia on androgens for male differentiation. Sup- Secretion rates of cortisol (F), 11-desoxycortisol (S),' pression of Millerian structures occurred despite fe- corticosterone (B), and 11-desoxycorticosterone (DOC) male levels of testosterone indicating this step in male 'The following compounds and their trivial names and Dr. New was the recipient of Career Scientist Award of abbreviations are used: 17,21-dihydroxy-pregn-4-ene 3, 20 the Health Research Council of the City of New York under dione (11-desoxycortisol; compound S); 3a,17,20-trihy- Contract I 481. droxy-5,8-pregnane (pregnanetriol); and 9a-fluoro-16a- Received for publication 19 February 1970 and in revised methyl-i1lp,17a,21-trihydroxypregn-1,4-diene-3,20-dione (dex- form 26 May 1970. amethasone; Decadron). 1930 The Journal of Clinical Investigation Volume 49 1970 were measured by the method of New, Seaman, and Peter- hair. A prostate was palpated. A small right testis was in son (4). Urinary 17-ketosteroids, 17-hydroxycorticosteroids, the scrotum and a mass was felt in the left inguinal canal. pregnanetriol, aldosterone, and plasma 17-hydroxycorticoids Urinary 17-ketosteroid excretion was 14 mg/24 hr (normal were measured by previously reported methods (5). Plasma for outside laboratory 15-20) ; 17-hydroxycorticoid excretion androgens were determined by a double isotope dilution was 2.3 mg/24 hr (normal for outside laboratory 2-4). derivative technique (6). Urinary estrogens were determined Karyotype was reported as 46/XY and a male chromatin by the method of Brown, Bulbrook, and Greenwood (7), as pattern was observed on buccal smear. Serum electrolytes modified by Beling (8) and urinary pregnanediol by the were normal (K, 4.1 mEq/liter). Repeat testicular biopsies method of Klopper, Michie, and Brown (9). Plasma lutein- were performed at age 16 which revealed the same micro- izing hormone (LH) and follicle-stimulating hormone scopic findings bilaterally. There was mild tubular atrophy (FSH) were determined by a radioimmunoassay (10). The with increased space between tubules and basement mem- urinary 17-ketosteroids were partitioned by a single isotope brane thickening. Tubules showed decreased spermatozoa dilution technique utilizing hot acid hydrolysis, separation and were lined almost completely with Sertoli cells. There of steroids by paper chromatography, and quantitation of was a relative increase in Leydig cells. The microscopic the separate eluates by the Zimmermann reaction (5). diagnosis was atrophy of the right and left testes. When The various periods of study described in the results were the patient was 20 yr of age, a prostate was palpated and as follows: base line-no medications; i.v. ACTH-40 U of the patient claimed to have normal libido but no ejaculation ACTH intravenously daily; metyrapone-3 g of metyrapone or orgasm. His voice was high-pitched, he still had no p.o. daily for 3 days; Decadron-8 mg of dexamethasone p.o. facial, axillary, or body hair, no temporal hair recession, daily for 3 days; Decadron + CGT-8 mg of dexamethasone and gynecomastia was marked. Height was 68 inches (pubis p.o. + human chorionic gonadotropin, 5000 U intramuscu- to crown, 311 inches, and pubis to floor, 361 inches). A larly, daily for 3 days; and testosterone-injection of 400 bone age was normal and the proximal epiphyses of the mg of testosterone enanthate intramuscularly once. fibulae were fused. Case report. This 24 yr old male pseudohermaphrodite He was admitted for the first time to The New York was admitted for mastectomy. He was born with ambiguous Hospital at 24 yr of age for mastectomy. At this time he genitalia and the sex assignment was uncertain until his had marked gynecomastia (see Fig. 1), hypospadias, chordee, first medical investigation at age 20 months when he was hypoplasia of the scrotum, empty left scrotum, and a small definitely considered male. At that age his height (90 cm) right gonad. His height was 68 inches and weight 206 lb. and weight (14.5 kg) and blood pressure were normal. The blood pressure was only slightly elevate' (150-130/ His genitalia were described as follows: "the labia majora 90-60). He was markedly obese and had a eunuchoid or bifid scrotum contain oval shaped bodies (testes) ; that habitus. He claimed to have erections and sexual inter- or. the right
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