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D2 MTE4 Case 11: Adult CAH, how do I optimize treatment?
28 years, female, born of non-consanguineous marriage, assigned female gender had genital ambiguity and seizures on day 10 of life. She presented to us at 9 years with genital ambiguity and hyperpigmentation. Tanner stage A3P4B2, external genitalia: phallic like structure 4.5 cm, posterior labial fu...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Wolters Kluwer - Medknow
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067873/ http://dx.doi.org/10.4103/2230-8210.342236 |
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author | Prasad, Trupti |
author_facet | Prasad, Trupti |
author_sort | Prasad, Trupti |
collection | PubMed |
description | 28 years, female, born of non-consanguineous marriage, assigned female gender had genital ambiguity and seizures on day 10 of life. She presented to us at 9 years with genital ambiguity and hyperpigmentation. Tanner stage A3P4B2, external genitalia: phallic like structure 4.5 cm, posterior labial fusion, single opening, no palpable gonads. Unstimulated 17 OHP 192 ng/ml, testosterone and DHEAS elevated, low basal cortisol, other biochemical parameters normal, CT scan- bilateral adrenal enlargement, so a diagnosis of simple virilizing type of congenital adrenal hyperplasia was made and was started on T. Hydrocortisone and T. Fludrocortisone, after which pigmentation decreased. Gender role and identity as female. Underwent clitoral reduction and vaginal reconstruction. She had spontaneous puberty with pubarche at 7 years, thelarche at 10.5 years and menarche at 12.5 years. Her 17 OHP remained elevated and had early epiphyseal fusion leading to short stature. She had hirsutism at 16 years so she was started on T. Dexamethasone but was again changed to Hydrocortisone as she developed cushingoid features after 2 years. She is married for past 3 years and is eumenorrhic but now presents with primary infertility. Recent investigations revealed 17 OHP 50 ng/ml (Target: 4-12 ng/ml) and T 6.3 nmol/l. Currently on T. Hydrocortisone divided in 5 doses and T. Fludrocortisone 150 mcg. How to further manage fertility and long-term complications.? |
format | Online Article Text |
id | pubmed-9067873 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-90678732022-05-05 D2 MTE4 Case 11: Adult CAH, how do I optimize treatment? Prasad, Trupti Indian J Endocrinol Metab Meet the Expert Cases…esicon 2021 28 years, female, born of non-consanguineous marriage, assigned female gender had genital ambiguity and seizures on day 10 of life. She presented to us at 9 years with genital ambiguity and hyperpigmentation. Tanner stage A3P4B2, external genitalia: phallic like structure 4.5 cm, posterior labial fusion, single opening, no palpable gonads. Unstimulated 17 OHP 192 ng/ml, testosterone and DHEAS elevated, low basal cortisol, other biochemical parameters normal, CT scan- bilateral adrenal enlargement, so a diagnosis of simple virilizing type of congenital adrenal hyperplasia was made and was started on T. Hydrocortisone and T. Fludrocortisone, after which pigmentation decreased. Gender role and identity as female. Underwent clitoral reduction and vaginal reconstruction. She had spontaneous puberty with pubarche at 7 years, thelarche at 10.5 years and menarche at 12.5 years. Her 17 OHP remained elevated and had early epiphyseal fusion leading to short stature. She had hirsutism at 16 years so she was started on T. Dexamethasone but was again changed to Hydrocortisone as she developed cushingoid features after 2 years. She is married for past 3 years and is eumenorrhic but now presents with primary infertility. Recent investigations revealed 17 OHP 50 ng/ml (Target: 4-12 ng/ml) and T 6.3 nmol/l. Currently on T. Hydrocortisone divided in 5 doses and T. Fludrocortisone 150 mcg. How to further manage fertility and long-term complications.? Wolters Kluwer - Medknow 2022-03 /pmc/articles/PMC9067873/ http://dx.doi.org/10.4103/2230-8210.342236 Text en Copyright: © 2022 Indian Journal of Endocrinology and Metabolism https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Meet the Expert Cases…esicon 2021 Prasad, Trupti D2 MTE4 Case 11: Adult CAH, how do I optimize treatment? |
title | D2 MTE4 Case 11: Adult CAH, how do I optimize treatment? |
title_full | D2 MTE4 Case 11: Adult CAH, how do I optimize treatment? |
title_fullStr | D2 MTE4 Case 11: Adult CAH, how do I optimize treatment? |
title_full_unstemmed | D2 MTE4 Case 11: Adult CAH, how do I optimize treatment? |
title_short | D2 MTE4 Case 11: Adult CAH, how do I optimize treatment? |
title_sort | d2 mte4 case 11: adult cah, how do i optimize treatment? |
topic | Meet the Expert Cases…esicon 2021 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067873/ http://dx.doi.org/10.4103/2230-8210.342236 |
work_keys_str_mv | AT prasadtrupti d2mte4case11adultcahhowdoioptimizetreatment |